 | ||||||||||||
|
Ataxia Telangiectasia
(Louis-Bar Syndrome)
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive cerebellar ataxia; telangiectasis of conjunctiva and skin; dysarthria; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING radiation. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. serum alpha-fetoproteins are usually elevated. (Menkes, Textbook of child neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).
Images |
|
 Ataxia globalgenes.org |  of Ataxia Telangiectasia www.rxlist.com |  Ataxia-telangiectasia is rare drugline.org |  Ataxia telangiectasia atlasgeneticsoncology.org |
 Ataxia Telangiectasia www.dermaamin.com |  ATM (ataxia telangiectasia www.nature.com |  Ataxia-Telangiectasia: a www.gfmer.ch |  of ataxia-telangiectasia emedicine.medscape.com |
Diagnosis and therapies
|
|
Wikipedia
Ataxia telangiectasia mutated, Ataxia telangiectasia and Rad3 related, Ataxia telangiectasia, HybriCell, Bistriji ili tuplji ?ovek biva kad..., Acanthocarpus (plant), Costea of Moldavia, Cozi Central, Mackinlayoideae, Secrets of the Mountain
More information
- Reported cases - Summary of cases reported on this disease.
- Related terms - Look for sites, images, videos, news and articles about related terms.
- SearchMedica - Professional Medical Search.
- WHO - World Health Organization.
- PubMed - A service of the National Library of Medicine and National Institutes of Health.
- MEDLINE - Literature from the National Library of Medicine.
- MeSH - Medical Subject Headings.
- DeCS - Health Sciences Descriptors.
Leave a message or picture about "Ataxia Telangiectasia" or enter the forum
We do not evaluate or guarantee the accuracy of any content in this site. Click here for the full disclaimer.